ZFPM2 sequence changes in patients with congenital diaphragmatic hernia
| Observed change | Number of patients (inheritance pattern) | Exon | 1000 genomes*/dbSNP (heterozygosity) | Predicted effect (PolyPhen/SNPs3D) |
| Non-synonymous changes | ||||
| D98N | 1 (Non-maternal, father not available) | 3 | No/no | Possibly damaging/non-deleterious |
| S210T | 1 (Paternal) | 6 | No/no | Benign/non-deleterious |
| A403G | 11 | 8 | Yes/yes (0.341) | Benign/non-deleterious |
| E782D | 10 | 8 | Yes/yes (0.078) | Benign/non-deleterious |
| Q889E | 1 (Non-maternal father not available) | 8 | No/no—3.3% Hispanic control chromosomes | Benign/non-deleterious |
| A1055V | 1 (Non-maternal, father not available) | 8 | Yes/yes (0.146) | Benign/non-deleterious |
| Synonymous changes | ||||
| P454P | 4 | 8 | Yes/yes (0.234) | – |
| P592P | 3 | 8 | Yes/yes (0.101) | – |
| V795V | 2 | 8 | Yes/yes (0.120) | – |
| Y992Y | 3 | 8 | Yes/yes (0.104) | – |
| H1069H | 4 | 8 | Yes/yes (0.234) | – |
| L1123L | 3 | 8 | Yes/yes (0.156) | – |
↵* Data accessed on 8 March 2011.